Genetic Testing for Familial Hypercholesterolemia Variants in the Community

Genetic testing of more than 50,000 adult patients in a large US healthcare system identified that one in 222 patients carried gene variants associated with familial hypercholesterolemia (FH). Familial hypercholesterolemia is an inherited condition that causes high levels of LDL (low density lipoprotein) cholesterol levels beginning at birth, and heart attacks at an early age.  Read more about FH. The study suggests that "FH is underdiagnosed and undertreated [and] use of genetic information to identify cases . . . may improve diagnosis, treatment, and ultimately [CVD] outcomes," stated  Dr Michael F Murray (Geisinger Health System, Danville, PA).  This type of research could ultimately lead to "more refined cardiovascular risk stratification for patients with elevated LDL-C levels," they suggest.